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Variants search result for Homo sapiens
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67 records found for search term Irx1
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RGD IDSymbolVariant TypeNameTraitClinical SignificanceChrStartStopSpeciesAnnotationsMatch
401726730CV2736168single nucleotide variantNM_024337.4(IRX1):c.96T>G (p.Ala32=)not provided [RCV003312615]likely benign535962013596201Humanname
401829804CV2743971single nucleotide variantNM_024337.4(IRX1):c.42C>G (p.Ala14=)not provided [RCV003327148]likely benign535961473596147Humanname
15105049CV749477single nucleotide variantNM_024337.4(IRX1):c.207G>A (p.Pro69=)not provided [RCV000915470]likely benign535963123596312Humanname
156180034CV2356059single nucleotide variantNM_024337.4(IRX1):c.92C>T (p.Ala31Val)not specified [RCV004203476]uncertain significance535961973596197Humanname
401732971CV2685387single nucleotide variantNM_024337.4(IRX1):c.94G>T (p.Ala32Ser)not specified [RCV004294424]uncertain significance535961993596199Humanname
405281013CV3190729single nucleotide variantNM_024337.4(IRX1):c.780T>C (p.Ala260=)IRX1-related disorder [RCV003907164]likely benign535997283599728Humanname , trait , alternate_id
405279580CV3191416single nucleotide variantNM_024337.4(IRX1):c.960G>A (p.Ala320=)IRX1-related disorder [RCV003919574]benign535999083599908Humanname , trait , alternate_id
405267685CV3198437single nucleotide variantNM_024337.4(IRX1):c.738G>A (p.Glu246=)IRX1-related disorder [RCV003911805]likely benign535996863599686Humanname , trait , alternate_id
405274264CV3211611single nucleotide variantNM_024337.4(IRX1):c.933C>T (p.His311=)IRX1-related disorder [RCV003951437]likely benign535998813599881Humanname , trait , alternate_id
405801185CV3271452single nucleotide variantNM_024337.4(IRX1):c.40G>C (p.Ala14Pro)not specified [RCV004403340]uncertain significance535961453596145Humanname
405801187CV3271453single nucleotide variantNM_024337.4(IRX1):c.49C>T (p.Pro17Ser)not specified [RCV004403341]uncertain significance535961543596154Humanname
407458266CV3455402single nucleotide variantNM_024337.4(IRX1):c.44C>T (p.Ala15Val)not specified [RCV004633235]uncertain significance535961493596149Humanname
15157143CV699075single nucleotide variantNM_024337.4(IRX1):c.318C>T (p.Pro106=)IRX1-related disorder [RCV003903164]|not provided [RCV000946830]benign535992663599266Humanname , trait , alternate_id
15107204CV765107single nucleotide variantNM_024337.4(IRX1):c.915C>A (p.Gly305=)not provided [RCV000937926]likely benign535998633599863Humanname
156263962CV2289756single nucleotide variantNM_024337.4(IRX1):c.211G>C (p.Ala71Pro)not specified [RCV004150443]uncertain significance535963163596316Humanname
155940743CV2294130single nucleotide variantNM_024337.4(IRX1):c.275T>C (p.Met92Thr)not specified [RCV004149500]uncertain significance535963803596380Humanname
156167175CV2315285single nucleotide variantNM_024337.4(IRX1):c.214G>C (p.Gly72Arg)not specified [RCV004167272]uncertain significance535963193596319Humanname
156341818CV2368463single nucleotide variantNM_024337.4(IRX1):c.267C>A (p.Phe89Leu)not specified [RCV004219223]uncertain significance535963723596372Humanname
401770320CV2711077single nucleotide variantNM_024337.4(IRX1):c.218C>T (p.Ala73Val)not specified [RCV004310768]uncertain significance535963233596323Humanname
401764954CV2728159single nucleotide variantNM_024337.4(IRX1):c.103G>T (p.Ala35Ser)not specified [RCV004324206]uncertain significance535962083596208Humanname
401925272CV2820364single nucleotide variantNM_024337.4(IRX1):c.189G>A (p.Met63Ile)not provided [RCV003436374]uncertain significance535962943596294Humanname
405276072CV3193222single nucleotide variantNM_024337.4(IRX1):c.1272T>C (p.Asn424=)IRX1-related disorder [RCV003974388]benign536002203600220Humanname , trait , alternate_id
405284309CV3196711single nucleotide variantNM_024337.4(IRX1):c.1074G>A (p.Leu358=)IRX1-related disorder [RCV003979607]benign536000223600022Humanname , trait , alternate_id
616939913CV4014370single nucleotide variantNM_024337.4(IRX1):c.1410G>T (p.Thr470=)not provided [RCV005413864]likely benign536010073601007Humanname
15159483CV721441single nucleotide variantNM_024337.4(IRX1):c.1254T>A (p.Ile418=)IRX1-related disorder [RCV003930536]|not provided [RCV000881205]benign536002023600202Humanname , trait , alternate_id
156041002CV2261345single nucleotide variantNM_024337.4(IRX1):c.772C>T (p.Pro258Ser)not specified [RCV004129992]uncertain significance535997203599720Humanname
156349696CV2305695single nucleotide variantNM_024337.4(IRX1):c.820G>A (p.Val274Ile)not specified [RCV004167517]uncertain significance535997683599768Humanname
156395527CV2329242single nucleotide variantNM_024337.4(IRX1):c.761C>T (p.Ala254Val)not specified [RCV004173987]uncertain significance535997093599709Humanname
156385220CV2368218single nucleotide variantNM_024337.4(IRX1):c.766G>C (p.Ala256Pro)not specified [RCV004219017]uncertain significance535997143599714Humanname
156345517CV2372934single nucleotide variantNM_024337.4(IRX1):c.764C>T (p.Pro255Leu)not specified [RCV004223978]uncertain significance535997123599712Humanname
156170489CV2400581single nucleotide variantNM_024337.4(IRX1):c.874G>A (p.Gly292Ser)not specified [RCV004246763]uncertain significance535998223599822Humanname
329356198CV2430629single nucleotide variantNM_024337.4(IRX1):c.779C>G (p.Ala260Gly)not specified [RCV004253821]uncertain significance535997273599727Humanname
329359967CV2446499single nucleotide variantNM_024337.4(IRX1):c.830C>T (p.Pro277Leu)not specified [RCV004251402]uncertain significance535997783599778Humanname
329356620CV2460443single nucleotide variantNM_024337.4(IRX1):c.504G>T (p.Lys168Asn)not specified [RCV004268744]uncertain significance535994523599452Humanname
401722090CV2706364single nucleotide variantNM_024337.4(IRX1):c.356C>T (p.Pro119Leu)not specified [RCV004317207]uncertain significance535993043599304Humanname
401738923CV2722010single nucleotide variantNM_024337.4(IRX1):c.584C>T (p.Ala195Val)not specified [RCV004326496]uncertain significance535995323599532Humanname
405801189CV3271454single nucleotide variantNM_024337.4(IRX1):c.755C>T (p.Pro252Leu)not specified [RCV004403342]uncertain significance535997033599703Humanname
405801191CV3271455single nucleotide variantNM_024337.4(IRX1):c.770C>A (p.Ala257Asp)not specified [RCV004403343]uncertain significance535997183599718Humanname
405801193CV3271456single nucleotide variantNM_024337.4(IRX1):c.974G>C (p.Ser325Thr)not specified [RCV004403344]uncertain significance535999223599922Humanname
407458264CV3455401single nucleotide variantNM_024337.4(IRX1):c.806T>G (p.Leu269Arg)not specified [RCV004633234]uncertain significance535997543599754Humanname
407458268CV3455403single nucleotide variantNM_024337.4(IRX1):c.853G>A (p.Ala285Thr)not specified [RCV004633236]uncertain significance535998013599801Humanname
597765675CV3690405single nucleotide variantNM_024337.4(IRX1):c.934G>C (p.Gly312Arg)not specified [RCV004926895]uncertain significance535998823599882Humanname
597765679CV3690406single nucleotide variantNM_024337.4(IRX1):c.889C>A (p.Leu297Met)not specified [RCV004926896]uncertain significance535998373599837Humanname
597765693CV3690409single nucleotide variantNM_024337.4(IRX1):c.639C>A (p.Asp213Glu)not specified [RCV004926899]uncertain significance535995873599587Humanname
597765701CV3690411single nucleotide variantNM_024337.4(IRX1):c.341C>G (p.Ala114Gly)not specified [RCV004926901]uncertain significance535992893599289Humanname
597765709CV3690413single nucleotide variantNM_024337.4(IRX1):c.745G>T (p.Ala249Ser)not specified [RCV004926903]uncertain significance535996933599693Humanname
598170641CV3979712single nucleotide variantNM_024337.4(IRX1):c.846G>T (p.Leu282Phe)not specified [RCV005370388]uncertain significance535997943599794Humanname
598195119CV3979713single nucleotide variantNM_024337.4(IRX1):c.818A>T (p.Asp273Val)not specified [RCV005354939]uncertain significance535997663599766Humanname
598170645CV3979714single nucleotide variantNM_024337.4(IRX1):c.506T>C (p.Met169Thr)not specified [RCV005370389]uncertain significance535994543599454Humanname
156075504CV2248071single nucleotide variantNM_024337.4(IRX1):c.1064C>T (p.Pro355Leu)not specified [RCV004115350]uncertain significance536000123600012Humanname
155998762CV2287190single nucleotide variantNM_024337.4(IRX1):c.1271A>G (p.Asn424Ser)not specified [RCV004146841]uncertain significance536002193600219Humanname
156168908CV2399201single nucleotide variantNM_024337.4(IRX1):c.1345G>A (p.Ala449Thr)not specified [RCV004246629]uncertain significance536006413600641Humanname
401721581CV2683570single nucleotide variantNM_024337.4(IRX1):c.1433C>T (p.Pro478Leu)not specified [RCV004282501]uncertain significance536010303601030Humanname
401734221CV2688435single nucleotide variantNM_024337.4(IRX1):c.1024G>C (p.Gly342Arg)not specified [RCV004301420]uncertain significance535999723599972Humanname
401769134CV2693310single nucleotide variantNM_024337.4(IRX1):c.1028C>A (p.Ala343Glu)not specified [RCV004295273]uncertain significance535999763599976Humanname
401762299CV2714090single nucleotide variantNM_024337.4(IRX1):c.1096T>A (p.Cys366Ser)not specified [RCV004315487]uncertain significance536000443600044Humanname
401888591CV2757818single nucleotide variantNM_024337.4(IRX1):c.1381G>T (p.Asp461Tyr)not specified [RCV004336965]uncertain significance536006773600677Humanname
401920630CV2797480single nucleotide variantNM_024337.4(IRX1):c.1357A>C (p.Lys453Gln)IRX1-related disorder [RCV003402601]uncertain significance536006533600653Humanname , trait , alternate_id
405801181CV3271450single nucleotide variantNM_024337.4(IRX1):c.1301C>T (p.Pro434Leu)not specified [RCV004403338]uncertain significance536002493600249Humanname
405801183CV3271451single nucleotide variantNM_024337.4(IRX1):c.1368C>A (p.Phe456Leu)not specified [RCV004403339]uncertain significance536006643600664Humanname
407458262CV3455400single nucleotide variantNM_024337.4(IRX1):c.1283C>A (p.Ala428Asp)not specified [RCV004633233]uncertain significance536002313600231Humanname
597765671CV3690404single nucleotide variantNM_024337.4(IRX1):c.1241C>T (p.Pro414Leu)not specified [RCV004926894]uncertain significance536001893600189Humanname
597765685CV3690407single nucleotide variantNM_024337.4(IRX1):c.1433C>G (p.Pro478Arg)not specified [RCV004926897]uncertain significance536010303601030Humanname
597765689CV3690408single nucleotide variantNM_024337.4(IRX1):c.1291C>G (p.Arg431Gly)not specified [RCV004926898]uncertain significance536002393600239Humanname
597765697CV3690410single nucleotide variantNM_024337.4(IRX1):c.1423G>C (p.Ala475Pro)not specified [RCV004926900]uncertain significance536010203601020Humanname
598170638CV3979711single nucleotide variantNM_024337.4(IRX1):c.1012G>A (p.Ala338Thr)not specified [RCV005370387]uncertain significance535999603599960Humanname
15157147CV699076single nucleotide variantNM_024337.4(IRX1):c.1333C>A (p.Pro445Thr)IRX1-related disorder [RCV003903165]|not provided [RCV000946831]benign536006293600629Humanname , trait , alternate_id